ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059240
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497967
ClinVar RCV Id:
RCV000591315
RCV001453690
RCV002532394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Arg1235Trp
CA3852860
NM_170724.3:c.3703C>T